Genetics Genetics Research
CHROMOSOME 9 DBH 9q34.2 GENE VIEW DBH · 9q34.2 9q33 9q35 rs1108580 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs1108580 Glutamic Acid 162 → Aspartic Acid A / C · DBH · 9q34.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs1108580

Glutamic Acid 162 → Aspartic Acid Gene: DBH — Dopamine Beta-Hydroxylase Chr 9:133639992 9q34.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.467612G 0.532388AA 0.225662AG/GA 0.483901GG 0.290437pop=637,370 ↬
African A 0.34516G 0.65484AA 0.12074AG/GA 0.448848GG 0.430411pop=54,348
African American A 0.34577G 0.65423AA 0.121345AG/GA 0.448844GG 0.429811pop=52,330
African Others A 0.3295G 0.6705AA 0.105055AG/GA 0.448959GG 0.445986pop=2,018
Asian A 0.85022G 0.14978AA 0.723363AG/GA 0.25372GG 0.022917pop=13,440
East Asian A 0.8639G 0.1361AA 0.747026AG/GA 0.233743GG 0.019231pop=10,088
European A 0.459125G 0.540875AA 0.210919AG/GA 0.496412GG 0.292669pop=506,696
Latin American 1 A 0.4789G 0.5211AA 0.23363AG/GA 0.490532GG 0.275838pop=8,766
Latin American 2 A 0.68061G 0.31939AA 0.466417AG/GA 0.428393GG 0.105191pop=15,990
Other A 0.51911G 0.48089AA 0.283156AG/GA 0.471907GG 0.244938pop=35,062
Other Asian A 0.8091G 0.1909AA 0.652148AG/GA 0.313842GG 0.03401pop=3,352
South Asian A 0.6314G 0.3686AA 0.404172AG/GA 0.454368GG 0.14146pop=3,068

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